Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34331 | 103216;103217;103218 | chr2:178533624;178533623;178533622 | chr2:179398351;179398350;179398349 |
| N2AB | 32690 | 98293;98294;98295 | chr2:178533624;178533623;178533622 | chr2:179398351;179398350;179398349 |
| N2A | 31763 | 95512;95513;95514 | chr2:178533624;178533623;178533622 | chr2:179398351;179398350;179398349 |
| N2B | 25266 | 76021;76022;76023 | chr2:178533624;178533623;178533622 | chr2:179398351;179398350;179398349 |
| Novex-1 | 25391 | 76396;76397;76398 | chr2:178533624;178533623;178533622 | chr2:179398351;179398350;179398349 |
| Novex-2 | 25458 | 76597;76598;76599 | chr2:178533624;178533623;178533622 | chr2:179398351;179398350;179398349 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
Reported SAVs
| SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/C | rs765213170  |
-1.115 | 1.0 | D | 0.89 | 0.711 | 0.813355634935 | gnomAD-2.1.1 | 8.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.77E-05 | 0 |
| Y/C | rs765213170 |
-1.115 | 1.0 | D | 0.89 | 0.711 | 0.813355634935 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| Y/C | rs765213170 |
-1.115 | 1.0 | D | 0.89 | 0.711 | 0.813355634935 | gnomAD-4.0.0 | 1.11531E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.35606E-05 | 0 | 3.20184E-05 |
| Y/D | None | None | 0.999 | D | 0.908 | 0.76 | 0.87212143462 | gnomAD-4.0.0 | 1.59099E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85762E-06 | 0 | 0 |
| Y/F | rs765213170 |
None | 0.117 | N | 0.445 | 0.518 | 0.41518383557 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 9.41E-05 | 0 | 0 | 0 | 0 |
| Y/F | rs765213170 |
None | 0.117 | N | 0.445 | 0.518 | 0.41518383557 | gnomAD-4.0.0 | 6.56806E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 9.40911E-05 | 0 | 0 | 0 | 0 |
Saturation Mutagenesis
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.999 | likely_pathogenic | 0.9996 | pathogenic | -2.509 | Highly Destabilizing | 0.991 | D | 0.854 | deleterious | None | None | None | None | N |
| Y/C | 0.9879 | likely_pathogenic | 0.9947 | pathogenic | -1.652 | Destabilizing | 1.0 | D | 0.89 | deleterious | D | 0.573266268 | None | None | N |
| Y/D | 0.9989 | likely_pathogenic | 0.9992 | pathogenic | -3.229 | Highly Destabilizing | 0.999 | D | 0.908 | deleterious | D | 0.573266268 | None | None | N |
| Y/E | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -2.981 | Highly Destabilizing | 0.999 | D | 0.901 | deleterious | None | None | None | None | N |
| Y/F | 0.3686 | ambiguous | 0.4059 | ambiguous | -0.986 | Destabilizing | 0.117 | N | 0.445 | neutral | N | 0.519216538 | None | None | N |
| Y/G | 0.9974 | likely_pathogenic | 0.9985 | pathogenic | -2.957 | Highly Destabilizing | 0.998 | D | 0.908 | deleterious | None | None | None | None | N |
| Y/H | 0.9953 | likely_pathogenic | 0.9965 | pathogenic | -2.414 | Highly Destabilizing | 0.999 | D | 0.749 | deleterious | D | 0.573012778 | None | None | N |
| Y/I | 0.9413 | likely_pathogenic | 0.9752 | pathogenic | -1.008 | Destabilizing | 0.99 | D | 0.845 | deleterious | None | None | None | None | N |
| Y/K | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -2.011 | Highly Destabilizing | 0.999 | D | 0.901 | deleterious | None | None | None | None | N |
| Y/L | 0.9303 | likely_pathogenic | 0.9524 | pathogenic | -1.008 | Destabilizing | 0.966 | D | 0.801 | deleterious | None | None | None | None | N |
| Y/M | 0.9842 | likely_pathogenic | 0.9916 | pathogenic | -1.069 | Destabilizing | 0.999 | D | 0.845 | deleterious | None | None | None | None | N |
| Y/N | 0.9942 | likely_pathogenic | 0.9964 | pathogenic | -2.95 | Highly Destabilizing | 0.999 | D | 0.903 | deleterious | D | 0.573266268 | None | None | N |
| Y/P | 0.9997 | likely_pathogenic | 0.9998 | pathogenic | -1.527 | Destabilizing | 0.999 | D | 0.921 | deleterious | None | None | None | None | N |
| Y/Q | 0.9997 | likely_pathogenic | 0.9998 | pathogenic | -2.498 | Highly Destabilizing | 0.999 | D | 0.845 | deleterious | None | None | None | None | N |
| Y/R | 0.999 | likely_pathogenic | 0.9993 | pathogenic | -2.288 | Highly Destabilizing | 0.999 | D | 0.895 | deleterious | None | None | None | None | N |
| Y/S | 0.9981 | likely_pathogenic | 0.9991 | pathogenic | -3.197 | Highly Destabilizing | 0.997 | D | 0.895 | deleterious | D | 0.573266268 | None | None | N |
| Y/T | 0.9985 | likely_pathogenic | 0.9995 | pathogenic | -2.799 | Highly Destabilizing | 0.998 | D | 0.9 | deleterious | None | None | None | None | N |
| Y/V | 0.9367 | likely_pathogenic | 0.9778 | pathogenic | -1.527 | Destabilizing | 0.983 | D | 0.826 | deleterious | None | None | None | None | N |
| Y/W | 0.904 | likely_pathogenic | 0.9026 | pathogenic | -0.349 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.